| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2115399dup | CA16043510 | PKD1 | c.2079dup (p.Pro694AlafsTer20) c.472+2093dup c.1010dup (n.1010dup) c.2133dup (p.Pro712AlafsTer20) c.2061dup (p.Pro688AlafsTer20) c.2007dup (p.Pro670AlafsTer20) c.1926dup (p.Pro643AlafsTer20) c.1869dup (p.Pro624AlafsTer20) n.2148dup | ClinVar dbSNP |
| 16 | g.2115399del | CA2575879150 | PKD1 | c.2079del (p.Ala696ArgfsTer?) c.472+2093del c.1010del (n.1010del) c.2133del (p.Ala714ArgfsTer?) c.2061del (p.Ala690ArgfsTer?) c.2007del (p.Ala672ArgfsTer?) c.1926del (p.Ala645ArgfsTer?) c.1869del (p.Ala626ArgfsTer?) n.2148del | ClinVar dbSNP gnomAD v4 |